Neurocognitive functions and behavioral profiles in children with nephropathic cystinosis.

Children with nephropathic cystinosis (NCTN) have evidence of defective intellectual functions and behavioral disorders. This prospective study was performed to detect the cognitive dysfunctions in patients with this rare hereditary lysosomal storage disease, define their behavioral phenotypes, and study the findings on magnetic resonance imaging (MRI) of the brain. Thirteen patients with confirmed diagnosis of cystinosis (mean age±SD 5.